Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant
condition with substantial intrafamilial and interfamilial variability. MFS is caused by …

Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a
variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene …

Objective Empirical evidence on depression and anxiety in patients with rare diseases is
scarce but can help improve comprehensive treatment. The objectives of this study were to …

Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan
involvement that requires optimal multidisciplinary care to normalize both prognosis and …

The fibrillinopathies represent a group of diseases in which the 10–12 nm extracellular
microfibrils are disrupted by genetic variants in one of the genes encoding fibrillin …

The clinical manifestations of Marfan syndrome frequently cause pain. This study aimed to
characterize pain in a cohort of adults with Marfan syndrome and investigate demographic …

Background Advances in medical, interventional and surgical treatment have increased
average life expectancy of patients with congenital heart defects. As a result a new group of …

Objective To assess health-related quality of life (HRQOL) in a large multicenter cohort of
children and young adults with Marfan syndrome participating in the Pediatric Heart Network …

Background: Previous small studies suggested reduced quality of life (QOL) for people with
Marfan syndrome (MFS) compared with those without MFS. The national registry of GenTAC …

Background Pathologic conditions of the aorta remain a major source of morbidity and
mortality for patients with Marfan syndrome (MFS). Extensive thoracoabdominal aortic …